Jennifer Stallworth, one of the genetic counselors at Greenwood Genetic Center, explained that her role is to counsel patients who may be considering the test, including informing them about the risk for chromosomal conditions in their pregnancies, and discussing the pros and cons of NIPT
, compared with other screening and diagnostic testing options.
3] Nonstandard abbreviations: MPS, massively parallel sequencing; ccf, circulating cell free; NIPT
, noninvasive prenatal testing; CNV, copy number variation; IRB, investigational review board; gDNA, genomic DNA; MAPQ, mapping quality.
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She pointed to a December 2014 investigative report on NIPT
in the Boston Globe that said some women have terminated their pregnancies based on NIPT
screening results without having a confirmatory diagnostic test.
The original NIPT
methodology is known as massively parallel shotgun sequencing (MPSS).
As proof of principle, we measured the minor chimeric DNA component in 2 potential clinical applications: allogeneic organ transplantation and NIPT
We have selected the Harmony Prenatal Test as our in-house NIPT
test in Australia and the UK because it has an enviable track record of quality, reliability and robustness, having been performed for hundreds of thousands of women globally," said Graeme Suthers, Director of Genetics at Sonic Healthcare (Australia).
In these cases, the NIPT
results did not match the fetal karyotype results, which were obtained through amniocentesis or chorionic villus sampling.
is based on using maternal blood plasma, which contains fetal DNA in the form of cell-free DNA (cfDNA).
Current data from prospective NIPT
studies (13-15) have shown remarkably high sensitivities and specificities, approaching 100% for the 3 fetal trisomies.
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